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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
No signs/symptoms info
Familial retinal arterial macroaneurysm
Permanent neonatal diabetes mellitus

IGFBP7 ABCC8
GCK
INS
KCNJ11
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IGFBP7
(0.75)
INS



Citations in the biomedical literature:


Familial retinal arterial macroaneurysm
IGFBP7
Permanent neonatal diabetes mellitus
ABCC8 GCK INS KCNJ11 PDX1



Familial retinal arterial macroaneurysm
Permanent neonatal diabetes mellitus

Synonym(s):
- FRAM
- Retinal arterial macroaneurysm and supravalvular pulmonic stenosis

Synonym(s):
- PNDM

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Certain conditions originating in the perinatal period -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.